Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome [6]

Journal of Medical Genetics

Volumn 38, Issue 4, 2001, Pages 253-256

  Bougeard, G ^a   Limacher, J M ^a   Martin, C ^a   Charbonnier, F ^a   Killian, A ^a   Delattre, O ^a   Longy, M ^a   Jonveaux, P ^a   Fricker, J P ^a   Stoppa Lyonnet, D ^a   Flaman, J M ^a   Frebourg T ^a  

^a UNIVERSITÉ DE ROUEN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FAMILIAL CANCER; GENE MUTATION; GENETIC PREDISPOSITION; GERM LINE; LETTER; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; FRANCE; GENES, TUMOR SUPPRESSOR; GERM-LINE MUTATION; HUMANS; LI-FRAUMENI SYNDROME; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; PHOSPHOPROTEINS; PROTEIN KINASES; PROTEIN-SERINE-THREONINE KINASES; TRANS-ACTIVATORS; TUMOR SUPPRESSOR PROTEIN P53; TUMOR SUPPRESSOR PROTEINS;

EID: 0035060741     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (24)

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5. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms
6. Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome
7. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome
8. Screening hCHK2 for mutations
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10. Chk2/hCds1 functions as a DNA damage checkpoint in G(1) by stabilizing p53
11. DNA damage-induced activation of p53 by the checkpoint kinase Chk2
12. p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities
13. Cloning and functional analysis of human p51, which structurally and functionally resembles p53
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18. Mutational analysis of the p63/p73L/p51/p40/CUSP/KET gene in human cancer cell lines using intronic primers
19. Mammalian Chk2 is a downstream effector of the ATM-dependent DNA damage checkpoint pathway
20. A rapid PCR fidelity assay
21. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
22. Multiple primary cancers in families with Li-Fraumeni syndrome
23. Identification of human p53 mutations with differential effects on the bax and p21 promoters using functional assays in yeast